• Gene id: 79958

Gene Summary

• Gene Symbol: DENND1C   Gene   UCSC   Ensembl
• Aliases: FAM31C
• Gene name: DENN domain containing 1C
• Alternate names: DENN domain-containing protein 1C, DENN/MADD domain containing 1C, connecdenn 3, family with sequence similarity 31, member C,
• Gene location: 19p13.3 (13150374: 13144057)     Exons: 9     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene functions as a guanine nucleotide exchange factor for the early endosomal small GTPase RAB35, which regulates endosomal membrane trafficking and is involved in actin polymerization. The encoded protein activates RAB35 by p
• OMIM: 613634

Protein Summary

• Protein general information: Q8IV53  
  • Name: DENN domain containing protein 1C (Connecdenn 3) (Protein FAM31C)
  • Length: 801  
  • Mass: 87065
• Sequence:

  MESRAEGGSPAVFDWFFEAACPASLQEDPPILRQFPPDFRDQEAMQMVPKFCFPFDVEREPPSPAVQHFTFALTD
  LAGNRRFGFCRLRAGTQSCLCILSHLPWFEVFYKLLNTVGDLLAQDQVTEAEELLQNLFQQSLSGPQASVGLELG
  SGVTVSSGQGIPPPTRGNSKPLSCFVAPDSGRLPSIPENRNLTELVVAVTDENIVGLFAALLAERRVLLTASKLS
  TLTSCVHASCALLYPMRWEHVLIPTLPPHLLDYCCAPMPYLIGVHASLAERVREKALEDVVVLNVDANTLETTFN
  DVQALPPDVVSLLRLRLRKVALAPGEGVSRLFLKAQALLFGGYRDALVCSPGQPVTFSEEVFLAQKPGAPLQAFH
  RRAVHLQLFKQFIEARLEKLNKGEGFSDQFEQEITGCGASSGALRSYQLWADNLKKGGGALLHSVKAKTQPAVKN
  MYRSAKSGLKGVQSLLMYKDGDSVLQRGGSLRAPALPSRSDRLQQRLPITQHFGKNRPLRPSRRRQLEEGTSEPP
  GAGTPPLSPEDEGCPWAEEALDSSFLGSGEELDLLSEILDSLSMGAKSAGSLRPSQSLDCCHRGDLDSCFSLPNI
  PRWQPDDKKLPEPEPQPLSLPSLQNASSLDATSSSKDSRSQLIPSESDQEVTSPSQSSTASADPSIWGDPKPSPL
  TEPLILHLTPSHKAAEDSTAQENPTPWLSTAPTEPSPPESPQILAPTKPNFDIAWTSQPLDPSSDPSSLEDPRAR
  PPKALLAERAHLQPREEPGALNSPATPTSNCQKSQPSSRPRVADLKKCFEG

• Structural information:
  • Protein Domains: (13..15-)
    (/note="uDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (182..31-)
    (/note="cDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (320..39-)
    (/note="dDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304"-)
  • Interpro: IPR001194  IPR005112  IPR040032  IPR037516  IPR005113  
  • Prosite: PS50211
  • STRING: ENSP00000370889
• Other Databases: GeneCards:  DENND1C  Malacards:  DENND1C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0032456	endocytic recycling	IBA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:1901981	phosphatidylinositol phosphate binding	IBA	molecular function
GO:0006897	endocytosis	IBA	biological process
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq